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Neuropediatrics
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October 17, 2023
ACOX1 Gain-of-Function Variant in Two German Pediatric Patients, in One Case Mimicking Autoimmune Inflammatory Disease
Charlotte Thiels, Thomas Lücke, Tobias Rothoeft, et al.
Proteomics
|
November 19, 2005
Proteome analysis of mitochondrial outer membrane from Neurospora crassa
Simone Schmitt, Holger Prokisch, Tilman Schlunck, et al.
Mitochondrion
|
July 12, 2017
LYRM7 - associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical study
Maja Hempel, Laura S Kremer, Konstantinos Tsiakas, et al.
Journal of Inherited Metabolic Disease
|
May 7, 2019
Mitochondrial DNA mutation analysis from exome sequencing-A more holistic approach in diagnostics of suspected mitochondrial disease
Matias Wagner, Riccardo Berutti, Bettina Lorenz-Depiereux, et al.
Neurogenetics
|
March 24, 2015
MRPL44 mutations cause a slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathy
Felix Distelmaier, Tobias B Haack, Claudia B Catarino, et al.
Molecular Biology of the Cell
|
December 12, 2003
Reconstituted TOM core complex and Tim9/Tim10 complex of mitochondria are sufficient for translocation of the ADP/ATP carrier across membranes
Andreja Vasiljev, Uwe Ahting, Frank E Nargang, et al.
Nature Genetics
|
May 26, 2009
SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy
Daniele Ghezzi, Paola Goffrini, Graziella Uziel, et al.
Neurogenetics
|
February 10, 2015
MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalities
Fabian Baertling, Tobias B Haack, Richard J Rodenburg, et al.
Journal of Human Genetics
|
July 22, 2025
Identification of a pathogenic RNU4-2 variant in patients with mitochondrial disease: Broadening the spectrum of non-coding RNA gene variants in mitochondrial dysfunction
Kohta Nakamura, Yoshihito Kishita, Atsuko Imai-Okazaki, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
February 26, 2013
Mitochondrial membrane protein associated neurodegenration: a novel variant of neurodegeneration with brain iron accumulation
Eva C Schulte, Malte C Claussen, Angela Jochim, et al.
Page
of 40
Search research articles
Search
Showing results (101-110 of 394) with videos related to
Sort By:
Page
of 40
Neuropediatrics
|
October 17, 2023
ACOX1 Gain-of-Function Variant in Two German Pediatric Patients, in One Case Mimicking Autoimmune Inflammatory Disease
Charlotte Thiels, Thomas Lücke, Tobias Rothoeft, et al.
Proteomics
|
November 19, 2005
Proteome analysis of mitochondrial outer membrane from Neurospora crassa
Simone Schmitt, Holger Prokisch, Tilman Schlunck, et al.
Mitochondrion
|
July 12, 2017
LYRM7 - associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical study
Maja Hempel, Laura S Kremer, Konstantinos Tsiakas, et al.
Journal of Inherited Metabolic Disease
|
May 7, 2019
Mitochondrial DNA mutation analysis from exome sequencing-A more holistic approach in diagnostics of suspected mitochondrial disease
Matias Wagner, Riccardo Berutti, Bettina Lorenz-Depiereux, et al.
Neurogenetics
|
March 24, 2015
MRPL44 mutations cause a slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathy
Felix Distelmaier, Tobias B Haack, Claudia B Catarino, et al.
Molecular Biology of the Cell
|
December 12, 2003
Reconstituted TOM core complex and Tim9/Tim10 complex of mitochondria are sufficient for translocation of the ADP/ATP carrier across membranes
Andreja Vasiljev, Uwe Ahting, Frank E Nargang, et al.
Nature Genetics
|
May 26, 2009
SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy
Daniele Ghezzi, Paola Goffrini, Graziella Uziel, et al.
Neurogenetics
|
February 10, 2015
MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalities
Fabian Baertling, Tobias B Haack, Richard J Rodenburg, et al.
Journal of Human Genetics
|
July 22, 2025
Identification of a pathogenic RNU4-2 variant in patients with mitochondrial disease: Broadening the spectrum of non-coding RNA gene variants in mitochondrial dysfunction
Kohta Nakamura, Yoshihito Kishita, Atsuko Imai-Okazaki, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
February 26, 2013
Mitochondrial membrane protein associated neurodegenration: a novel variant of neurodegeneration with brain iron accumulation
Eva C Schulte, Malte C Claussen, Angela Jochim, et al.
Page
of 40